Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS.We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.
|Titolo:||Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.|
|Citazione:||Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. / Chiò, A; Restagno, G; Brunetti, M; Ossola, I; Calvo, A; Mora, G; Sabatelli, M; Monsurrò, Mr; Battistini, Stefania; Mandrioli, J; Salvi, F; Spataro, R; Schymick, J; Traynor, Bj; La Bella, V; Italsgen, Consortium; Giannini, Fabio. - STAMPA. - 30:8(2009), pp. 1272-1275.|
|Appare nelle tipologie:||1.1 Articolo in rivista|
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